Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A2 disease C2936858 GeneticVariation 0.8 orphanet , disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A2 disease C2936858 AlteredExpression 0.8 orphanet , disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A2 disease C2936858 Biomarker 0.8 orphanet , disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A2 disease C2936858 CausalMutation 0.8 orphanet , disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A1P disease C2936858 PosttranslationalModification 0.1 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A1P disease C2936858 Biomarker 0.1 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency POMC disease C2936858 AlteredExpression 0.1 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency POMC disease C2936858 GeneticVariation 0.1 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency POMC disease C2936858 Biomarker 0.1 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP21A1P disease C2936858 GeneticVariation 0.1 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HLA-B disease C2936858 Biomarker 0.07 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HLA-B disease C2936858 GeneticVariation 0.07 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency AR disease C2936858 Biomarker 0.04 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency AR disease C2936858 AlteredExpression 0.04 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency AR disease C2936858 GeneticVariation 0.04 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C4B disease C2936858 Biomarker 0.04 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C4B disease C2936858 GeneticVariation 0.04 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TNXB disease C2936858 Biomarker 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HSD3B2 disease C2936858 GeneticVariation 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HSD3B2 disease C2936858 Biomarker 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP2B6 disease C2936858 AlteredExpression 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency GLO1 disease C2936858 Biomarker 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP2B6 disease C2936858 GeneticVariation 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency GLO1 disease C2936858 GeneticVariation 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TNXB disease C2936858 GeneticVariation 0.03 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NR3C1 disease C2936858 GeneticVariation 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency DKK1 disease C2936858 Biomarker 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C4B_2 disease C2936858 GeneticVariation 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C4B_2 disease C2936858 Biomarker 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency DKK1 disease C2936858 AlteredExpression 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C4A disease C2936858 Biomarker 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C4A disease C2936858 GeneticVariation 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP2C19 disease C2936858 AlteredExpression 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP2C19 disease C2936858 Biomarker 0.02 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP3A4 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency ARR3 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HLA-A disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP3A7 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TRIM27 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency IRS1 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HSD3B1 disease C2936858 AlteredExpression 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CFC1 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency GH1 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency BRD2 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TNFRSF11B disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NR3C2 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HSD17B1 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency GRB7 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP11B1 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CRH disease C2936858 AlteredExpression 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NR1I2 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CXADRP1 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency PRKAR1A disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency AZF1 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CAPN10 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency IGF2 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CYP17A1 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TNFSF11 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency IDS disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TNXA disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency NR1I3 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency GNRH1 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency SPG7 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CASR disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TNFRSF1B disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency TRIM13 disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency CXADR disease C2936858 GeneticVariation 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency FPR2 disease C2936858 Biomarker 0.01 disgenet
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency HLA-DOA disease C2936858 GeneticVariation 0.01 disgenet
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